protein Shroom4 (second homolog of apical protein, SHROOM4, KIAA1202, SHAP)

Function: - regulates cytoskeletal architecture in development by modulating spatial distribution of myosin-2 - interacts directly with F-actin Structure: - belongs to the Shroom family - contains 1 ASD2 domain - contains 1 PDZ domain (DHR domain) Compartment: - cytoplasm, cytoskeleton - partial colocalisation with the cytoplasmic pool of F-actin Alternative splicing: named isoforms=2 Expression: - expressed in all fetal & adult tissues investigated - expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas - in brain regions, detected in cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe, putamen - expression is strongest in medulla & weakest in the cerebral cortex Pathology: - defects in SHROOM4 are the cause of Stocco dos Santos X-linked mental retardation syndrome - chromosomal translocation t(X;8)(p11.22;p23.3) involving SHROOM4 with FBXO₂5 is a cause of X-linked mental retardation - a chromosomal translocation t(X;19) involving SHROOM4 is a cause of X-linked mental retardation

Properties

SIZE: MW = 165 kD entity length = 1498 aa COMPARTMENT: cytoplasm MOTIF: PDZ domain NAME: PDZ domain SITE: 10-92 cysteine-rich region {871-937} proline-rich region SITE: 1100-1107 MOTIF: proline residue (SEVERAL) glutamine-rich region {1119-1135} MOTIF: glutamine residue (SEVERAL) glutamate-rich region {1136-1186} MOTIF: glutamate residue (SEVERAL) ASD2 {1213-1492} coiled coil {1387-1493}

Database Correlations

OMIM 300434 UniProt Q9ULL8 PFAM correlations

References

UniProt :accession Q9ULL8